Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1 (Q28307006)

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2 November 2019

title

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1 (English)

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2 November 2019

8

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2 November 2019

Carlo A Tassinari

9

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2 November 2019

Albert de la Chapelle

15

object named as

A de la Chapelle

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2 November 2019

author name string

K Virtaneva

1

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2 November 2019

E D'Amato

2

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2 November 2019

J Miao

3

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2 November 2019

M Koskiniemi

4

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2 November 2019

R Norio

5

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2 November 2019

G Avanzini

6

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2 November 2019

S Franceschetti

7

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2 November 2019

S Omer

10

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2 November 2019

L A Pennacchio

11

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2 November 2019

R M Myers

12

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2 November 2019

J L Dieguez-Lucena

13

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2 November 2019

R Krahe

14

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2 November 2019

A E Lehesjoki

16

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2 November 2019

language of work or name

English

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publication date

1 April 1997

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2 November 2019

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2 November 2019

volume

15

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2 November 2019

page(s)

393-396

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2 November 2019

issue

4

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https://scigraph.springernature.com/pub.10.1038/ng0497-393

2 November 2019

exact match

0 references

cites work

Trinucleotide repeats that expand in human disease form hairpin structures in vitro

1 reference

https://api.crossref.org/works/10.1038/NG0497-393

The minisatellite in the diabetes susceptibility locus IDDM2 regulates insulin transcription.

21 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FNG0497-393

Genetic evidence for the spread of agriculture in Europe by demic diffusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0497-393

Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0497-393

Susceptibility to human type 1 diabetes at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0497-393

Complex gene conversion events in germline mutation at human minisatellites

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0497-393

Minisatellite mutation rate variation associated with a flanking DNA sequence polymorphism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0497-393

Progressive myoclonus epilepsies: specific causes and diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0497-393

7 January 2021

Classification of progressive myoclonus epilepsies and related disorders

1 reference

https://api.crossref.org/works/10.1038%2FNG0497-393

7 January 2021

Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients

1 reference

https://api.crossref.org/works/10.1038%2FNG0497-393

7 January 2021

Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22

1 reference

https://api.crossref.org/works/10.1038%2FNG0497-393

7 January 2021

Linkage studies in progressive myoclonus epilepsy: Unverricht-Lundborg and Lafora's diseases

1 reference

https://api.crossref.org/works/10.1038%2FNG0497-393

7 January 2021

Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping

1 reference

https://api.crossref.org/works/10.1038%2FNG0497-393

7 January 2021

Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)

1 reference

https://api.crossref.org/works/10.1038%2FNG0497-393

7 January 2021

PME of Unverricht-Lundborg type in the Mediterranean region: linkage and linkage disequilibrium confirm the assignment to the EPM1 locus

1 reference

https://api.crossref.org/works/10.1038%2FNG0497-393

7 January 2021

The highly polymorphic region near the human insulin gene is composed of simple tandemly repeating sequences.

1 reference

https://api.crossref.org/works/10.1038%2FNG0497-393

7 January 2021

Localization of a type I diabetes susceptibility locus to the variable tandem repeat region flanking the insulin gene

1 reference

https://api.crossref.org/works/10.1038%2FNG0497-393

7 January 2021

A Polymorphic Locus Near the Human Insulin Gene Is Associated with Insulin-dependent Diabetes Melliitus

1 reference

https://api.crossref.org/works/10.1038%2FNG0497-393

7 January 2021

Regulation of insulin gene expression by the IDDM associated, insulin locus haplotype

1 reference

https://api.crossref.org/works/10.1038%2FNG0497-393

7 January 2021

Hairpins are formed by the single DNA strands of the fragile X triplet repeats: structure and biological implications

1 reference

https://api.crossref.org/works/10.1038%2FNG0497-393

7 January 2021

Trinucleotide repeat expansion and human disease

1 reference

https://api.crossref.org/works/10.1038%2FNG0497-393

7 January 2021

Disease gene mapping in isolated human populations: the example of Finland

1 reference

https://api.crossref.org/works/10.1038%2FNG0497-393

7 January 2021

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

1 reference

https://api.crossref.org/works/10.1038%2FNG0497-393

7 January 2021

The expanding world of trinucleotide repeats

1 reference

https://api.crossref.org/works/10.1038%2FNG0497-393

7 January 2021

Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the progressive myoclonus epilepsy gene

1 reference

https://api.crossref.org/works/10.1038%2FNG0497-393

7 January 2021

Identifiers

DOI

10.1038/NG0497-393

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9090386%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference